Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.77903543G>C | CA126744 | EDNRB,EDNRB-AS1 | c.548C>G (p.Ala183Gly) c.26C>G (p.Ala9Gly) c.818C>G (p.Ala273Gly) n.1695-4149G>C | ClinVar dbSNP |
13 | g.77903543G= | CA2103865907 | EDNRB,EDNRB-AS1 | c.548C= (p.Ala183=) c.26C= (p.Ala9=) c.818C= (p.Ala273=) n.1695-4149G= | dbSNP |